-
Loading metrics
Open Access
Peer-reviewed
Research Article
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
-
Valentina Grampa,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Marion Delous ,
Contributed equally to this work with: Marion Delous, Mohamad Zaidan
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Mohamad Zaidan ,
Contributed equally to this work with: Marion Delous, Mohamad Zaidan
Affiliation INSERM U1151, CNRS UMR8253, Paris Descartes—Sorbonne Paris Cité University, Necker-Enfants Malades Institute, Mechanisms and Therapeutic Strategies of Chronic Kidney Diseases, Necker Hospital, Paris, France
⨯ -
Gweltas Odye,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Sophie Thomas,
Affiliations Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, INSERM UMR1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France
⨯ -
Nadia Elkhartoufi,
Affiliations Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, INSERM UMR1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France, Department of Genetics, AP-HP, Necker Hospital, Paris, France
⨯ -
Emilie Filhol,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Olivier Niel,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, Department of Pediatric Nephrology, AP-HP, Robert Debré Hospital, Paris, France
⨯ -
Flora Silbermann,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Corinne Lebreton,
Affiliations Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, INSERM UMR1163, Laboratory of Intestinal Immunity, Paris, France
⨯ -
Sophie Collardeau-Frachon,
Affiliation Department of Pathology, Hospices Civils de Lyon, CHU de Lyon, Lyon, France
⨯ -
Isabelle Rouvet,
Affiliation Cellular Biotechnology Department and Biobank, Hospices Civils de Lyon, CHU de Lyon, Lyon, France
⨯ -
Jean-Luc Alessandri,
Affiliation CHU de La Réunion Saint-Denis/Saint-Pierre, La Réunion, France
⨯ -
Louise Devisme,
Affiliation Anatomopathological Department, CHRU Lille, University Hospital, Lille, France
⨯ -
Anne Dieux-Coeslier,
Affiliation Department of Clinical Genetics, CHRU Lille, Lille, France
⨯ -
Marie-Pierre Cordier,
Affiliation Department of Genetics, Femme Mère-Enfant Hospital, University of Lyon 1, Bron, France
⨯ -
Yline Capri,
Affiliation Department of Genetics, CHU Robert-Debré, Paris, France
⨯ -
Suonavy Khung-Savatovsky,
Affiliation Fetal Pathology department, CHU Robert-Debré, Paris, France
⨯ -
Sabine Sigaudy,
Affiliation Multidisciplinary Department of Prenatal Diagnosis, La Timone Children’s Hospital, Marseille, France
⨯ -
Rémi Salomon,
Affiliations Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France
⨯ -
Corinne Antignac,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, Department of Genetics, AP-HP, Necker Hospital, Paris, France
⨯ -
Marie-Claire Gubler,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Alexandre Benmerah,
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ -
Fabiola Terzi,
Affiliation INSERM U1151, CNRS UMR8253, Paris Descartes—Sorbonne Paris Cité University, Necker-Enfants Malades Institute, Mechanisms and Therapeutic Strategies of Chronic Kidney Diseases, Necker Hospital, Paris, France
⨯ -
Tania Attié-Bitach,
Affiliations Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France, INSERM UMR1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France, Department of Histology-Embryology and Cytogenetics, AP-HP, Necker Hospital, Paris, France
⨯ -
Cécile Jeanpierre ,
¶‡ These authors also contributed equally to this work.
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ - [ ... ],
-
Sophie Saunier
* E-mail: sophie.saunier@inserm.fr
¶‡ These authors also contributed equally to this work.
Affiliations INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France, Paris Descartes—Sorbonne Paris Cité University, Imagine Institute, Paris, France
⨯ - [ view all ]
- [ view less ]
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
- Valentina Grampa,
- Marion Delous,
- Mohamad Zaidan,
- Gweltas Odye,
- Sophie Thomas,
- Nadia Elkhartoufi,
- Emilie Filhol,
- Olivier Niel,
- Flora Silbermann,
- Corinne Lebreton
- Published: March 11, 2016
- https://doi.org/10.1371/journal.pgen.1005894